Bloch-Sulzberger Syndrome: Etiological, Pathogenetic and Clinical Features of Central Nervous System Diseases

L.V. Shalkevych, A.I. Kudlach

Abstract


This article describes the issues of the etiology, pathogenesis, clinical manifestations, diagnosis, treatment and prevention of neurological complications in Bloch-Sulzberger syndrome as an optional (small) manifestation of this disease, with the focus on the features of IKBKG gene mutation in cells and tissues of the nervous system. The article is illustrated with a case report of our own observation of family inheritance of this disease in two girls (native sisters). It is of particular interest because of differences in pathogenetic mechanisms of genetic defect in the cells and tissues of the central nervous system in Bloch-Sulzberger syndrome among different patients, even in case of their consanguinity.


Keywords


Bloch-Sulzberger syndrome; incontinentia pigmenti; neurological disorders; children

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DOI: https://doi.org/10.22141/2224-0713.5.75.2015.78009

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